国际儿科学杂志
國際兒科學雜誌
국제인과학잡지
INTERNATIONAL JOURNAL OF PEDIATRICS
2013年
4期
336-340
,共5页
儿童%肾脏疾病%基因检测
兒童%腎髒疾病%基因檢測
인동%신장질병%기인검측
Children%Kidney disease%Genetic testing
随着基因检测手段的发展和进步,肾脏疾病的基因检测已成为肾脏疾病诊断及预后评估的一种重要手段.儿童肾脏疾病的发病与特定基因的异常有着密切联系.全面认识这些基因,为基因诊断、遗传咨询、产前诊断、疾病预后评估以及指导临床治疗奠定了基础.该文对近年来研究的一些热点基因与肾脏的关系以及这些基因突变导致肾脏疾病的有关研究进行综述.
隨著基因檢測手段的髮展和進步,腎髒疾病的基因檢測已成為腎髒疾病診斷及預後評估的一種重要手段.兒童腎髒疾病的髮病與特定基因的異常有著密切聯繫.全麵認識這些基因,為基因診斷、遺傳咨詢、產前診斷、疾病預後評估以及指導臨床治療奠定瞭基礎.該文對近年來研究的一些熱點基因與腎髒的關繫以及這些基因突變導緻腎髒疾病的有關研究進行綜述.
수착기인검측수단적발전화진보,신장질병적기인검측이성위신장질병진단급예후평고적일충중요수단.인동신장질병적발병여특정기인적이상유착밀절련계.전면인식저사기인,위기인진단、유전자순、산전진단、질병예후평고이급지도림상치료전정료기출.해문대근년래연구적일사열점기인여신장적관계이급저사기인돌변도치신장질병적유관연구진행종술.
With the development and progress of genetic testing,genetic testing of kidney disease has become an important method for diagnosis and prognosis evaluation.Some abnormal protein coding genes related to pediatric kidney diseases have been discovered in recent years.Fully and deeply understanding of these genes will provide a basis for applications of gene diagnosis,genetic counseling,prenatal diagnosis,disease prognosis valuation and clinical treatment guidance.In this article,the relationship between kidney diseases and relative genes had been reviewed.